Incidental Mutation 'R7861:Cyhr1'
ID 607544
Institutional Source Beutler Lab
Gene Symbol Cyhr1
Ensembl Gene ENSMUSG00000053929
Gene Name cysteine and histidine rich 1
Synonyms 1110031M01Rik, Chrp
MMRRC Submission 045914-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.343) question?
Stock # R7861 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 76643395-76660117 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 76648186 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 241 (D241N)
Ref Sequence ENSEMBL: ENSMUSP00000134739 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081291] [ENSMUST00000176274] [ENSMUST00000229524]
AlphaFold Q9QXA1
Predicted Effect probably benign
Transcript: ENSMUST00000081291
AA Change: D153N

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000080043
Gene: ENSMUSG00000053929
AA Change: D153N

DomainStartEndE-ValueType
SCOP:d1jm7a_ 21 88 3e-5 SMART
Blast:RING 27 62 8e-15 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000176274
AA Change: D241N

PolyPhen 2 Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000134739
Gene: ENSMUSG00000053929
AA Change: D241N

DomainStartEndE-ValueType
low complexity region 3 48 N/A INTRINSIC
low complexity region 78 91 N/A INTRINSIC
RING 106 150 1.9e-1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000229524
AA Change: D241N

PolyPhen 2 Score 0.569 (Sensitivity: 0.88; Specificity: 0.91)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016H13Rik T A 5: 103,649,494 (GRCm38) I50F possibly damaging Het
Abcc3 T C 11: 94,357,249 (GRCm38) D1175G probably null Het
Accs C A 2: 93,835,732 (GRCm38) *503L probably null Het
Adgra2 A G 8: 27,114,457 (GRCm38) E520G probably damaging Het
Aldh7a1 C A 18: 56,548,453 (GRCm38) C215F probably benign Het
Apbb1ip A C 2: 22,816,978 (GRCm38) D9A unknown Het
Atad2 G A 15: 58,125,780 (GRCm38) A228V probably benign Het
Atp10a T C 7: 58,788,359 (GRCm38) S430P probably damaging Het
Atp1a3 T C 7: 25,001,148 (GRCm38) D6G unknown Het
Brca1 A T 11: 101,526,422 (GRCm38) N295K possibly damaging Het
Caly C A 7: 140,081,388 (GRCm38) probably benign Het
Ces1h A G 8: 93,357,425 (GRCm38) Y386H unknown Het
Col14a1 A G 15: 55,444,616 (GRCm38) D1044G unknown Het
Csf2rb A G 15: 78,349,157 (GRCm38) D888G probably damaging Het
Cux1 T C 5: 136,252,604 (GRCm38) E568G possibly damaging Het
Dhrs7b T A 11: 60,855,742 (GRCm38) L219Q probably damaging Het
Dlg5 G A 14: 24,245,212 (GRCm38) P80L probably damaging Het
Dnah14 C T 1: 181,616,759 (GRCm38) P545S probably damaging Het
Dnajc24 A T 2: 106,002,035 (GRCm38) M1K probably null Het
Dusp12 C T 1: 170,874,526 (GRCm38) W301* probably null Het
Dyrk1a G T 16: 94,691,716 (GRCm38) G603* probably null Het
Eif4g1 T A 16: 20,679,702 (GRCm38) V403E probably benign Het
Epn3 T C 11: 94,496,274 (GRCm38) E90G probably damaging Het
Etl4 A G 2: 20,805,910 (GRCm38) S1303G probably benign Het
Evpl A T 11: 116,228,069 (GRCm38) Y627N probably damaging Het
Fbxw25 A T 9: 109,664,557 (GRCm38) L22* probably null Het
Fcamr T A 1: 130,814,638 (GRCm38) N587K probably benign Het
Fgd6 A G 10: 94,103,331 (GRCm38) N946S probably benign Het
Fndc3b A T 3: 27,468,999 (GRCm38) I477N possibly damaging Het
Grifin C T 5: 140,564,525 (GRCm38) A54T probably benign Het
Gtf2b A G 3: 142,781,344 (GRCm38) I180M probably damaging Het
Invs A T 4: 48,397,559 (GRCm38) D378V possibly damaging Het
Itgb6 T C 2: 60,628,444 (GRCm38) E378G probably damaging Het
Khdc1a T C 1: 21,350,399 (GRCm38) I81T possibly damaging Het
Kif20b T A 19: 34,939,922 (GRCm38) D617E probably damaging Het
Kifc3 T A 8: 95,107,537 (GRCm38) probably null Het
Kirrel3 C T 9: 35,020,123 (GRCm38) H403Y possibly damaging Het
Klf15 G A 6: 90,466,838 (GRCm38) V132I probably benign Het
Kmt2a A G 9: 44,818,734 (GRCm38) S3429P unknown Het
Lama1 T G 17: 67,809,221 (GRCm38) L2361R Het
Lrp1b T C 2: 40,697,558 (GRCm38) D3895G Het
Mcoln3 A C 3: 146,124,791 (GRCm38) E92A possibly damaging Het
Myo3b T C 2: 70,108,688 (GRCm38) M135T probably damaging Het
Mysm1 A G 4: 94,946,967 (GRCm38) *820Q probably null Het
Ncoa7 A G 10: 30,691,060 (GRCm38) S541P probably benign Het
Nup54 T C 5: 92,431,093 (GRCm38) T33A unknown Het
Olfr118 C A 17: 37,672,517 (GRCm38) Q165K possibly damaging Het
Olfr1290 T A 2: 111,490,024 (GRCm38) I45F probably damaging Het
Olfr1496 T C 19: 13,781,446 (GRCm38) V276A possibly damaging Het
Olfr45 T G 7: 140,691,571 (GRCm38) I222S probably damaging Het
Olfr586 T A 7: 103,122,692 (GRCm38) I27F probably benign Het
Otud6b A G 4: 14,826,414 (GRCm38) C18R probably benign Het
Pde4d A G 13: 109,935,324 (GRCm38) E284G probably damaging Het
Peg10 CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC CATC 6: 4,756,431 (GRCm38) probably benign Het
Pidd1 C A 7: 141,440,142 (GRCm38) W598L probably damaging Het
Pira2 A T 7: 3,844,544 (GRCm38) C49S probably damaging Het
Pramef6 T C 4: 143,897,718 (GRCm38) M70V possibly damaging Het
Prdx1 T G 4: 116,693,738 (GRCm38) D135E probably benign Het
Rab15 T A 12: 76,803,129 (GRCm38) Y88F probably damaging Het
Rem2 C A 14: 54,477,799 (GRCm38) H144Q probably damaging Het
Sel1l3 T C 5: 53,144,064 (GRCm38) D737G probably damaging Het
Srd5a3 C T 5: 76,147,819 (GRCm38) Q119* probably null Het
Suclg2 G T 6: 95,594,722 (GRCm38) Q120K probably benign Het
Tacc2 T A 7: 130,625,431 (GRCm38) M1282K probably benign Het
Tbc1d5 T A 17: 50,756,692 (GRCm38) Q620L probably damaging Het
Tdrd3 G T 14: 87,472,154 (GRCm38) A91S probably damaging Het
Thsd7b T A 1: 130,159,698 (GRCm38) F1184Y probably benign Het
Trim28 T A 7: 13,028,412 (GRCm38) V321E possibly damaging Het
Trim5 C A 7: 104,266,468 (GRCm38) probably null Het
Ugt2b37 A T 5: 87,242,440 (GRCm38) Y382* probably null Het
Usp40 C T 1: 87,982,130 (GRCm38) G534D probably damaging Het
Usp53 A T 3: 122,934,463 (GRCm38) H823Q probably benign Het
Vmn2r12 T A 5: 109,087,963 (GRCm38) M508L probably benign Het
Vmn2r56 T A 7: 12,715,424 (GRCm38) I296F probably benign Het
Vps13a T C 19: 16,655,304 (GRCm38) S2563G probably damaging Het
Wdr59 A G 8: 111,494,280 (GRCm38) F207L Het
Zan A G 5: 137,407,033 (GRCm38) S3777P unknown Het
Zfp277 T C 12: 40,315,881 (GRCm38) N530D possibly damaging Het
Zfp365 G A 10: 67,909,919 (GRCm38) R10W probably damaging Het
Zfp384 A T 6: 125,036,325 (GRCm38) H452L probably damaging Het
Zfyve28 A T 5: 34,217,143 (GRCm38) L509Q probably damaging Het
Other mutations in Cyhr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Cyhr1 APN 15 76,646,538 (GRCm38) missense probably damaging 1.00
IGL03163:Cyhr1 APN 15 76,659,274 (GRCm38) missense probably damaging 0.97
R0107:Cyhr1 UTSW 15 76,646,347 (GRCm38) missense possibly damaging 0.90
R0445:Cyhr1 UTSW 15 76,648,257 (GRCm38) missense probably damaging 1.00
R0759:Cyhr1 UTSW 15 76,646,185 (GRCm38) makesense probably null
R1327:Cyhr1 UTSW 15 76,649,176 (GRCm38) missense probably damaging 0.98
R1366:Cyhr1 UTSW 15 76,648,969 (GRCm38) missense probably damaging 0.96
R1950:Cyhr1 UTSW 15 76,659,217 (GRCm38) critical splice donor site probably null
R3416:Cyhr1 UTSW 15 76,658,715 (GRCm38) splice site probably null
R5092:Cyhr1 UTSW 15 76,646,312 (GRCm38) missense probably benign 0.11
R5749:Cyhr1 UTSW 15 76,658,644 (GRCm38) splice site probably null
R5860:Cyhr1 UTSW 15 76,656,415 (GRCm38) missense probably damaging 1.00
R5860:Cyhr1 UTSW 15 76,648,191 (GRCm38) missense probably damaging 1.00
R6032:Cyhr1 UTSW 15 76,658,858 (GRCm38) missense probably damaging 0.99
R6032:Cyhr1 UTSW 15 76,658,858 (GRCm38) missense probably damaging 0.99
R6397:Cyhr1 UTSW 15 76,648,191 (GRCm38) missense probably damaging 1.00
R6481:Cyhr1 UTSW 15 76,658,708 (GRCm38) splice site probably null
R6533:Cyhr1 UTSW 15 76,647,730 (GRCm38) nonsense probably null
R7466:Cyhr1 UTSW 15 76,648,186 (GRCm38) missense probably benign 0.29
R7484:Cyhr1 UTSW 15 76,646,235 (GRCm38) missense probably damaging 1.00
R7629:Cyhr1 UTSW 15 76,648,186 (GRCm38) missense probably benign 0.29
R7732:Cyhr1 UTSW 15 76,648,186 (GRCm38) missense probably benign 0.29
R7763:Cyhr1 UTSW 15 76,658,547 (GRCm38) missense probably damaging 0.99
R9300:Cyhr1 UTSW 15 76,646,341 (GRCm38) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- AGGAGCCATGCAGGTACATC -3'
(R):5'- TGTTCCAGCCACAGAGTTG -3'

Sequencing Primer
(F):5'- ACTGCCCAGAGCCTACTG -3'
(R):5'- GTTCCAGCCACAGAGTTGATCAC -3'
Posted On 2019-12-20